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Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I.
Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL. Puel A, et al. J Exp Med. 2010 Feb 15;207(2):291-7. doi: 10.1084/jem.20091983. Epub 2010 Feb 1. J Exp Med. 2010. PMID: 20123958 Free PMC article.
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH. Faiyaz-Ul-Haque M, et al. Eur J Pediatr. 2009 Dec;168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4. Eur J Pediatr. 2009. PMID: 19259699
Munchausen syndrome by proxy mimicking as Gaucher disease.
Al-Owain M, Al-Zaidan H, Al-Hashem A, Kattan H, Al-Dowaish A. Al-Owain M, et al. Eur J Pediatr. 2010 Aug;169(8):1029-32. doi: 10.1007/s00431-009-1127-5. Epub 2009 Dec 29. Eur J Pediatr. 2010. PMID: 20039062
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, Al-Sugair A, Nester M, Al-Yamani S, Al-Bakheet A, Al-Hashmi N, Al-Sayed M, Meyer B, Jungbluth H, Al-Owain M. Kaya N, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):826-34. doi: 10.1002/ajmg.b.31227. Epub 2011 Aug 2. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21812104
151 results